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Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature
Ramkumar, Hema L.1,2,3; Brooks, Brian P.4; Cao, Xiaoguang1,5; Tamura, Deborah6; DiGiovanna, John J.6; Kraemer, Kenneth H.6; Chan, Chi-Chao1
关键词ciliary body hamartoma ocular pathology optic atrophy xeroderma pigmentosum pigmentary retinal degeneration
刊名SURVEY OF OPHTHALMOLOGY
2011-07-01
DOI10.1016/j.survophthal.2011.03.001
56期:4页:348-361
收录类别SCI
文章类型Review
WOS标题词Science & Technology
类目[WOS]Ophthalmology
资助者Howard Hughes Medical Institute ; National Eye Institute ; Center for Cancer Research of the National Cancer Institute, National Institutes of Health ; Howard Hughes Medical Institute ; National Eye Institute ; Center for Cancer Research of the National Cancer Institute, National Institutes of Health
研究领域[WOS]Ophthalmology
关键词[WOS]SQUAMOUS-CELL CARCINOMA ; DNA-REPAIR DEFICIENCY ; OCULAR MANIFESTATIONS ; NEUROLOGICAL DISEASE ; COCKAYNES SYNDROME ; SKIN-CANCER ; ULTRAVIOLET-RADIATION ; MALIGNANT-MELANOMA ; BLACK-FAMILY ; CONJUNCTIVAL
英文摘要

Xeroderma pigmentosum is a rare, autosomal recessive disease caused by a defect in DNA repair. Patients with xeroderma pigmentosum often have cutaneous and ocular sun sensitivity, freckle-like skin pigmentation, multiple skin and eye cancers, and, in some patients, progressive neurodegeneration. Xeroderma pigmentosum predominantly affects the ultraviolet (UV) exposed ocular surface, resulting in eyelid atrophy and cancers, corneal dryness, exposure keratopathy, and conjunctival tumors. We report the clinical history and ocular pathology of two white women who had xeroderma pigmentosum with neurological degeneration: Case 1 (died at age 44 years) and Case 2 (died at age 45 years). Case 1, with mutations in the XPA gene, had more than 180 basal cell carcinomas of her skin and eyelids and died from complications of neurodegeneration. Case 2, with mutations in the XPD gene, was sun-protected and had three skin cancers. She died from complications of neurodegeneration and pneumonia. Both patients had bilateral pinguecula, corneal pannus, and exposure keratopathy. Case 1 had bilateral optic atrophy, and Case 2 had bilateral peripheral retinal pigmentary degeneration. Both patients developed retinal gliosis. The ophthalmic manifestations and pathology of xeroderma pigmentosum are discussed and reviewed with respect to this report and other cases in the literature. These cases illustrate the role of DNA repair in protection of the eyes from UV damage and neurodegeneration of the retina. (Surv Ophthalmol 56:348-361, 2011. Published by Elsevier Inc.)

语种英语
资助者Howard Hughes Medical Institute ; National Eye Institute ; Center for Cancer Research of the National Cancer Institute, National Institutes of Health ; Howard Hughes Medical Institute ; National Eye Institute ; Center for Cancer Research of the National Cancer Institute, National Institutes of Health
WOS记录号WOS:000292586000005
引用统计
被引频次:21[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/63488
专题北京大学第二临床医学院_眼科
作者单位1.NEI, Immunopathol Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA
2.Howard Hughes Med Inst, Chevy Chase, MD USA
3.Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA
4.NEI, Unit Pediat Dev & Genet Ophthalmol, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA
5.Peking Univ, Dept Ophthalmol, Peoples Hosp, Beijing 100871, Peoples R China
6.NCI, DNA Repair Sect, Dermatol Branch, NIH, Bethesda, MD 20892 USA
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GB/T 7714
Ramkumar, Hema L.,Brooks, Brian P.,Cao, Xiaoguang,et al. Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature[J]. SURVEY OF OPHTHALMOLOGY,2011,56(4):348-361.
APA Ramkumar, Hema L..,Brooks, Brian P..,Cao, Xiaoguang.,Tamura, Deborah.,DiGiovanna, John J..,...&Chan, Chi-Chao.(2011).Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature.SURVEY OF OPHTHALMOLOGY,56(4),348-361.
MLA Ramkumar, Hema L.,et al."Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature".SURVEY OF OPHTHALMOLOGY 56.4(2011):348-361.
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